Variant report

Variant	rs6458394
Chromosome Location	chr6:44512783-44512784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1040939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322651	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1475146	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141996	1.00[ASN][1000 genomes]
rs4532440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914011	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9472297	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5283	chr6:44505982-44517131	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	esv3499026	chr6:44510424-44516522	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3499029	chr6:44510824-44516422	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3499031	chr6:44511098-44516312	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv3472517	chr6:44511373-44515828	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3472520	chr6:44511402-44515853	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3472518	chr6:44511432-44515838	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3499027	chr6:44511436-44515867	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv3499025	chr6:44511451-44515825	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv3499032	chr6:44511462-44515800	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv3499028	chr6:44511487-44515788	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv3499033	chr6:44511542-44515744	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv3472521	chr6:44511546-44515742	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv3499034	chr6:44511546-44515742	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv14026	chr6:44511814-44515528	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv514358	chr6:44511870-44515110	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44509800-44513000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:44511000-44513000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:44511000-44516000	Weak transcription	HSMMtube	muscle
4	chr6:44511000-44516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:44511400-44512800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:44511600-44512800	Weak transcription	Psoas Muscle	Psoas
7	chr6:44512600-44513000	Enhancers	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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